{"id":633,"date":"2021-11-04T16:09:00","date_gmt":"2021-11-04T13:09:00","guid":{"rendered":"http:\/\/hifoder.org\/?p=633"},"modified":"2021-11-04T16:09:00","modified_gmt":"2021-11-04T13:09:00","slug":"sma-spinal-muskuler-atrofi-hastaligi-nedir","status":"publish","type":"post","link":"https:\/\/hifoder.org\/en\/sma-spinal-muskuler-atrofi-hastaligi-nedir\/","title":{"rendered":"SMA ( Spinal Muskuler Atrofi) HASTALI\u011eI NED\u0130R?"},"content":{"rendered":"
\"\"
SMA ( Spinal Muskuler Atrofi) HASTALI\u011eI NED\u0130R?<\/em><\/figcaption><\/figure>\n\n\n\n

SMA, sinir sistemini etkileyen ve do\u011fu\u015ftan gelen bir\ngenetik hastal\u0131kt\u0131r. Omurilikte bulunan \u00f6n boynuzda ki motor n\u00f6ronlar yani\nmotor sinir h\u00fccreleri iskelet kas sistemini kontrol eder. Yani motor sinir\nh\u00fccrelerinin eksikli\u011fi ya da \u00f6lmesi iskelet kas sisteminin de i\u015flevini bozar.<\/em><\/p>\n\n\n\n

G\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 ise d\u00fcnyada 1\/10.000 iken T\u00fcrkiye\u2019de ise 1\/6.000 d\u0131r. \u00c7ok nadir g\u00f6r\u00fclen bir hastal\u0131kt\u0131r. Genellikle bebeklerde daha \u00e7ok g\u00f6r\u00fcl\u00fcr.<\/em><\/p>\n\n\n\n

SMA HASTALI\u011eININ NEDENLER\u0130 NELERD\u0130R ?<\/em><\/strong><\/p>\n\n\n\n

Omurilikte bulunan \u00f6n boynuzda ki motor n\u00f6ronlar\u0131 yani\nmotor sinir h\u00fccreleri kas sistemini kontrol eder.<\/em><\/p>\n\n\n\n

 V\u00fccuda\nebeveynlerden ge\u00e7en, SMN1 genleri SMN ad\u0131 verilen proteinler \u00fcretir. Bu\nproteinlerin eksik \u00fcretilmesi halinde motor n\u00f6ronlar \u00f6l\u00fcr. Motor n\u00f6ronlar\u0131n\npar\u00e7alan\u0131p \u00f6lmesi ile yetersizlikler olu\u015fmaya ba\u015flar ve kas sistemini k\u00f6t\u00fc\netkiler. \u0130skelet kas sistemi k\u00f6t\u00fc etkilendi\u011fi i\u00e7in SMA’l\u0131 hastalarda hareket\nedebilmek \u00e7ok zor hale gelir.<\/em><\/p>\n\n\n\n

Sma hastal\u0131\u011f\u0131n\u0131n bir di\u011fer nedeninin ise akraba evlilikleri oldu\u011fu \u00f6ne s\u00fcr\u00fcl\u00fcr. Fakat akraba evlili\u011fi olmayan ailelerden de <\/em>SMA<\/em><\/a> geni ta\u015f\u0131yan bireyler do\u011fabilir.<\/em><\/p>\n\n\n\n

SMA HASTALI\u011eININ\nBEL\u0130RT\u0130LER\u0130<\/em><\/strong><\/p>\n\n\n\n

SMA hastal\u0131\u011f\u0131n\u0131n belirtileri hem do\u011fmadan \u00f6nce hem de\nhayatta iken bulunabilir. Hamile olan anne , bebek daha do\u011fmadan baz\u0131 testlerle\n\u00e7ocu\u011funda SMA olup olmad\u0131\u011f\u0131n\u0131 \u00f6\u011frenebilir. Bunu \u00f6\u011frenmek i\u00e7in ebeveynlerden kan\n\u00f6rne\u011fi al\u0131n\u0131p labaravatuara g\u00f6nderilir.<\/em><\/p>\n\n\n\n

 Do\u011fumdan \u00f6nce\nhastal\u0131\u011f\u0131n tan\u0131s\u0131 konabildi\u011fi gibi do\u011fumdan sonra \u00e7ocukluk halinde de\nbelirtiler bulunmaktad\u0131r.<\/em><\/p>\n\n\n\n

 Fiziksel\nbelirtiler ki\u015fiden ki\u015fiye de\u011fi\u015febilir. \u00c7ocuklarda belirtiler ve s\u0131kl\u0131klar az\ng\u00f6r\u00fcl\u00fcrken yeti\u015fkin bir insanda tam tersi olabilir. Baz\u0131 insanlarda\nhareketsizlik, baz\u0131 insanlarda ise ellerde titreme g\u00f6r\u00fclebilir.<\/em><\/p>\n\n\n\n

l Kas Zay\u0131fl\u0131\u011f\u0131 ve Hareketsizlik<\/em><\/strong><\/p>\n\n\n\n

Sma n\u0131n en bilindik belirtilerinden birisi kas\ng\u00fc\u00e7s\u00fczl\u00fc\u011f\u00fcd\u00fcr. N\u00f6ronlar kas sistemini olumsuz etkiledikleri i\u00e7in hareket etmeyi\n\u00e7ok zorla\u015ft\u0131r\u0131r.<\/em><\/p>\n\n\n\n

l Azalm\u0131\u015f Refleksler<\/em><\/strong><\/p>\n\n\n\n

Refleksler, insanlar\u0131n d\u0131\u015far\u0131dan gelen bir uyar\u0131ya\nverdikleri tepkidir. Ya da kendini savunmak i\u00e7in istemsiz bir \u015fekilde\nger\u00e7ekle\u015ftirdi\u011fi hareketlerdir. Fakat SMA l\u0131 hastalarda kas g\u00fc\u00e7s\u00fczl\u00fc\u011f\u00fc y\u00fcz\u00fcnden\nd\u0131\u015far\u0131dan gelen uyar\u0131lara art\u0131k \u00e7ok tepki veremezler. Reflekslerde azalma\ng\u00f6r\u00fcl\u00fcr.<\/em><\/p>\n\n\n\n

l Ellerde Titreme<\/em><\/strong><\/p>\n\n\n\n

Ellerde titreme, yorgunluk , heyecan, \u00f6fke ya da ani\nkorku ve duygu de\u011fi\u015fimlerinden ortaya \u00e7\u0131kar. Stres, halsizlik, \u00e7ay ve kahve\nt\u00fcketimi de buna sebep olur. Bu Sma l\u0131 hastalarda da daha fazla ve s\u0131k g\u00f6r\u00fcl\u00fcr.<\/em><\/p>\n\n\n\n

l Yutma G\u00fc\u00e7l\u00fc\u011f\u00fc (Disfaji)<\/em><\/strong><\/p>\n\n\n\n

Beslenme g\u00fc\u00e7l\u00fc\u011f\u00fc \u00e7ocuk hastalarda daha \u00e7ok g\u00f6r\u00fcl\u00fcr.\n\u0130stemsizce i\u015ftahs\u0131zl\u0131k ya da mide bulant\u0131s\u0131 durumlar\u0131 hissedebilirler. Yemek\nyediklerinde genellikle \u00e7ok \u00e7i\u011fneme e\u011filimi g\u00f6stermeye \u00e7al\u0131\u015ft\u0131klar\u0131 halde yutma\ng\u00fc\u00e7l\u00fc\u011f\u00fc \u00e7ekerler. Bu y\u00fczden genellikle ak\u0131\u015fkan besinleri tercih ederler.\nBunlarla beraber d\u00fc\u015fme e\u011filimleri, kramp girme, y\u00fcr\u00fcmekte zorluk, sinirsel\nn\u00f6ronlardan dolay\u0131 ba\u015f kontrol\u00fcn\u00fc sa\u011flayamama, ya\u015f\u0131tlar\u0131ndan geri kalma,\noturma, ayakta durmada zorluk \u00e7ekebilirler.<\/em><\/p>\n\n\n\n

SMA \u00c7E\u015e\u0130TLER\u0130<\/em><\/strong><\/p>\n\n\n\n

SMA \u00e7e\u015fitleri 4’e ayr\u0131l\u0131r.<\/em><\/p>\n\n\n\n

l Tip 1<\/em><\/strong><\/p>\n\n\n\n

SMA’n\u0131n (Spinal M\u00fcsk\u00fcler Atrofi) en a\u011f\u0131r ve en\nzorluklarla ilerleyen a\u015famas\u0131d\u0131r. Genellikle bu tipte olan hastalar en fazla 3\nya\u015f\u0131ndan \u00f6nce \u00f6lme riski bulundururlar.<\/em><\/p>\n\n\n\n

 SMA do\u011fumdan 6 ay\n\u00f6nceki d\u00f6nemde belirti verebilir. Hatta anne karn\u0131nda bile g\u00f6r\u00fclebilir. \u00d6rne\u011fin\nanne karn\u0131ndaki bebek do\u011fuma kalan son aylarda hareketsiz kalabilir. Tekme atma\ngibi eylemler g\u00f6r\u00fclemeyebilir. Annede i\u015ftahs\u0131zl\u0131k yaratabilir.<\/em><\/p>\n\n\n\n

 Yeni do\u011fan\n\u00e7ocuklar ise genellikle el ve bacak hareketleri sa\u011flayamazlar. Solunum zorlu\u011fu\n\u00e7ekerler. Bu y\u00fczden \u00f6ks\u00fcrme, hap\u015f\u0131rma ya da nefes al\u0131p vermede s\u0131k\u0131nt\u0131\nya\u015farlar. Bir deste\u011fe ihtiya\u00e7 olarak ya\u015farlar. \u0130yi geli\u015fmeler aras\u0131nda ise bu\nbebekler ileti\u015fim kurabilirler. G\u00f6rme s\u0131k\u0131nt\u0131lar\u0131nda bir problem meydana\ngelmez. Hatta tam tersine insanlarla bak\u0131\u015fma halinde olurlar.<\/em><\/p>\n\n\n\n

l Tip 2<\/em><\/strong><\/p>\n\n\n\n

 Hastal\u0131k\nbelirtileri, 6.aydan sonraki d\u00f6nemde ba\u015flar.<\/em><\/p>\n\n\n\n

 Bu hastalar tip 1\nhastalar\u0131nda g\u00f6r\u00fcld\u00fc\u011f\u00fc gibi solunum enfeksiyonlar\u0131nda s\u0131k\u0131nt\u0131 vard\u0131r. \u00d6ks\u00fcrme\nya da hap\u015f\u0131rma gibi e\u011filimleri bu hastalar da \u00e7ok zorlan\u0131r. Genellikle ayakta\nduramabilmeleri ya da y\u00fcr\u00fcyebilmeleri i\u00e7in yard\u0131m almalar\u0131 gerekir. Ama bunu\nyard\u0131ms\u0131z yapan hastalar\u0131n da oldu\u011funu bilmek gerekir. Bu hastalar kendi\nba\u015flar\u0131na oturabilirler. Ba\u015f hareketlerini kontrol edebilirler. Kambur\ndurma,omurilik s\u0131k\u0131nt\u0131lar\u0131 \u00e7ekebilirler. El titremeleri, ayak uyu\u015fmas\u0131 gibi\ndurumlar g\u00f6r\u00fclebilir. El ve ayak hareketlerinde kontrols\u00fczl\u00fck olabilir.<\/em><\/p>\n\n\n\n

l Tip 3<\/em><\/strong><\/p>\n\n\n\n

Tip 3, 18 aydan sonraki d\u00f6nemde belirti verir. Baz\u0131\nbelirtiler ise ergenlik d\u00f6nemini bulabilir.<\/em><\/p>\n\n\n\n

 Bu hastalarda da\nsolunum enfeksiyonlar\u0131 g\u00f6r\u00fcl\u00fcr. Fakat \u00e7ok \u015fiddetli degildir. \u00c7ocuk hastalarda\nb\u00fcnyeden dolay\u0131 \u015fiddetli ge\u00e7ebilir. Yutma ve \u00e7i\u011fneme eylemlerinde zorluklar \u00e7ok\nfazla g\u00f6r\u00fclmez.Y\u00fcr\u00fcmede s\u0131k\u0131nt\u0131lar\u0131 yoktur. Fakat ergenlikten ba\u015flay\u0131p\nyeti\u015fkinli\u011fe giden d\u00f6nemde baz\u0131 hastalarda a\u011f\u0131r ge\u00e7ebilir ve dengesizlik\nyaratabilirler. Bu y\u00fczden tekerlekli sandalyeye ihtiya\u00e7 duyabilirler.\nGenellikle kendi ya\u015f\u0131tlar\u0131ndan geri kalma problemini ya\u015farlar. \u00c7ocuklarda,\nkendi akranlar\u0131 emeklerken ya da y\u00fcr\u00fcrken geri kal\u0131rlar. Ergenlik d\u00f6neminde ise\ndi\u011fer akranlar\u0131 normal bir aktivite yapar iken hastalar geri kal\u0131rlar. \u00d6rne\u011fin\nnormal bir gencin ger\u00e7ekle\u015ftirdi\u011fi ko\u015fma eylemini onlardan \u00e7ok sonra tamamlar.\nAyr\u0131ca bu tipteki hastalar da, SMA ilerlerlerse hareketlerde \u00e7ok fazla zorluk\n\u00e7ekebilirler.<\/em><\/p>\n\n\n\n

l Tip 4<\/em><\/strong><\/p>\n\n\n\n

Tip 4 ise yeti\u015fkin insanlarda ortaya \u00e7\u0131kar. Hastal\u0131\u011f\u0131n\nba\u015flamas\u0131 ve ilerlemesi \u00e7ok yava\u015ft\u0131r. Hastal\u0131k bir anda kendini\ng\u00f6stermeyebilir. Hatta bazen de duraksamalar ve beklemeler olur.Y\u00fcr\u00fcmede\ns\u0131k\u0131nt\u0131 \u00e7ekmezler.Tekerlekli sandalyeye ba\u011fl\u0131 ya\u015fayan hasta say\u0131s\u0131 \u00e7ok azd\u0131r.<\/em><\/p>\n\n\n\n

 Solunumlar\u0131nda \u00e7ok\nfazla problem ya\u015famazlar. Bu hastalarda genellikle \u00e7ok fazla kas g\u00fc\u00e7s\u00fczl\u00fc\u011f\u00fc\ng\u00f6r\u00fcl\u00fcr. El ve ayaklarda g\u00fc\u00e7s\u00fczl\u00fck ve istemsiz hareketler g\u00f6r\u00fclebilir. Kambur\ndurma, el,ayak ve v\u00fccut titremesi ya\u015fayabilirler.<\/em><\/p>\n\n\n\n

 SMA HASTALI\u011eININ TEDAV\u0130S\u0130<\/em><\/strong><\/p>\n\n\n\n

SMA hastal\u0131\u011f\u0131n\u0131n bu zamana kadar bir tedavisi yoktu.\nFakat Amerika’da yap\u0131lan \u00e7al\u0131\u015fmalarla bu hastal\u0131\u011f\u0131n ilerlelemesi i\u00e7in bir \u00e7\u00f6z\u00fcm\nbulundu. Bu \u00e7al\u0131\u015fmalar yap\u0131l\u0131rken bir s\u00fcr\u00fc deney ve testler yap\u0131ld\u0131. Yeni\nila\u00e7lar piyasaya s\u00fcr\u00fcld\u00fc. \u0130la\u00e7lar\u0131n kullan\u0131lmas\u0131na y\u00f6nelik hastalarda durumlar\nkontrol alt\u0131nda tutuldu. Fakat Sma hastalar\u0131na y\u00f6nelik ila\u00e7lar \u00e7ok pahal\u0131. Bir\n\u00e7ok ebeveyn ila\u00e7lar\u0131 alabilmek i\u00e7in yard\u0131m almak zorunda kal\u0131yorlar. Ayn\u0131\n\u015fekilde gen terapisi yap\u0131lmaya ba\u015flad\u0131. Bu tedavinin de fiyat\u0131 \u00e7ok y\u00fcksektir.<\/em><\/p>\n\n\n\n

 SMA hastalar\u0131n\u0131n\nila\u00e7lar\u0131\nSGK<\/a> kapsam\u0131nda de\u011fil. <\/p>","protected":false},"excerpt":{"rendered":"

SMA, sinir sistemini etkileyen ve do\u011fu\u015ftan gelen bir genetik hastal\u0131kt\u0131r. Omurilikte bulunan \u00f6n boynuzda ki motor n\u00f6ronlar yani motor sinir h\u00fccreleri iskelet kas sistemini kontrol eder. Yani motor sinir h\u00fccrelerinin eksikli\u011fi ya da \u00f6lmesi iskelet kas sisteminin de i\u015flevini bozar. G\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 ise d\u00fcnyada 1\/10.000 iken T\u00fcrkiye\u2019de ise 1\/6.000 d\u0131r. \u00c7ok nadir g\u00f6r\u00fclen bir hastal\u0131kt\u0131r. […]<\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[26],"tags":[],"class_list":["post-633","post","type-post","status-publish","format-standard","hentry","category-sma"],"acf":[],"yoast_head":"\nSMA ( Spinal Muskuler Atrofi) HASTALI\u011eI NED\u0130R? - Hifo-DER<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/hifoder.org\/en\/sma-spinal-muskuler-atrofi-hastaligi-nedir\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"SMA ( Spinal Muskuler Atrofi) HASTALI\u011eI NED\u0130R? - Hifo-DER\" \/>\n<meta property=\"og:description\" content=\"SMA, sinir sistemini etkileyen ve do\u011fu\u015ftan gelen bir genetik hastal\u0131kt\u0131r. Omurilikte bulunan \u00f6n boynuzda ki motor n\u00f6ronlar yani motor sinir h\u00fccreleri iskelet kas sistemini kontrol eder. Yani motor sinir h\u00fccrelerinin eksikli\u011fi ya da \u00f6lmesi iskelet kas sisteminin de i\u015flevini bozar. G\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 ise d\u00fcnyada 1\/10.000 iken T\u00fcrkiye\u2019de ise 1\/6.000 d\u0131r. \u00c7ok nadir g\u00f6r\u00fclen bir hastal\u0131kt\u0131r. 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